Medical expert of the article

Pediatric geneticist, pediatrician

New publications

Schwachman-Diamond syndrome.

Alexey Kryvenko, medical expert
Last reviewed: 07.07.2025

All iLive content is medically reviewed or fact checked to ensure as much factual accuracy as possible.

We have strict sourcing guidelines and only link to reputable media sites, academic research institutions and, whenever possible, medically peer reviewed studies. Note that the numbers in parentheses ([1], [2], etc.) are clickable links to these studies.

If you feel that any of our content is inaccurate, out-of-date, or otherwise questionable, please select it and press Ctrl + Enter.

Shwachman-Diamond syndrome is an autosomal recessive disorder characterized by pancreatic insufficiency, neutropenia, impaired neutrophil chemotaxis, aplastic anemia, thrombocytopenia, metaphyseal dysostosis, and delayed physical development. The prevalence is 1:50,000. The SBDS gene (Shwachman-Bodian-Diamond syndrome-gene) has been identified on chromosome 7, in zone 7qll, mutations of which lead to the development of this disease.

ICD-10 code

K86. Other diseases of the pancreas.

Symptoms of Shwachman-Diamond syndrome

Manifestation usually occurs at the age of 3-5 months after the introduction of complementary foods, rarely earlier. Diarrhea occurs up to 4-10 times a day, often intermittent in nature, abundant foul-smelling fatty stools. Appetite is sharply reduced, dystrophy develops rapidly, there is a delay in physical and neuropsychic development. Skeletal deformities, signs of osteopenia, accompanied by spontaneous fractures are often detected. Neutropenia, normochromic and normosideremic anemia, thrombocytopenia combined with hemorrhagic syndrome are noted in the peripheral blood. The liver is dense, with a sharp edge. Children with Shwachman-Diamond syndrome are susceptible to bacterial infections of the respiratory system and skin (bronchitis, pneumonia, abscesses, pseudofurunculosis, pyoderma).

Some clinical symptoms (pancreatic hypoplasia, steatorrhea, lung and liver pathology) require exclusion of cystic fibrosis. In Shwachman-Diamond syndrome, the sweat test and other tests for cystic fibrosis are negative.

Treatment of Shwachman-Diamond syndrome

A high-calorie, low-fat, protein-rich diet with medium-chain triglycerides, replacement therapy with pancreatic drugs, and timely antibacterial treatment of infections are indicated.